Canonical Allele Identifier: CA363484454

Gene: NEU1

Linked Data

• MyVariant Identifiers: chr6:g.31827496T>G (hg19) ; chr6:g.31859719T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31859719T>G , CM000668.2:g.31859719T>G	GRCh38
NC_000006.11:g.31827496T>G , CM000668.1:g.31827496T>G	GRCh37
NC_000006.10:g.31935475T>G	NCBI36
NG_008201.1:g.8214A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.1248A>C MANE Select	ENSP00000364782.4:p.Ter416Cys
ENST00000677054.1:n.2587A>C
ENST00000677512.1:n.1525A>C
ENST00000678869.1:n.1836A>C
ENST00000375631.4:c.1248A>C	ENSP00000364782.4:p.Ter416Cys
ENST00000480384.1:n.1547A>C
ENST00000491768.5:c.*358A>C	ENSP00000433127.1:n.*358A>C
ENST00000495807.1:n.2556A>C
NM_000434.3:c.1248A>C	NP_000425.1:p.Ter416Cys
NM_000434.4:c.1248A>C MANE Select	NP_000425.1:p.Ter416Cys